S6C (p.Ser6Cys) variant of RP2 (Protein XRP2)
S6C (p.Ser6Cys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD rs1556313431
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available